A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

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Tayfur A. C., Karaduman T., Turkmen M. O., ŞAHİN D., Yilmaz A. C., Buyukkaragoz B., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.10, sa.4, ss.350-356, 2018 (SCI-Expanded, Scopus, TRDizin)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 10 Sayı: 4
• Basım Tarihi: 2018
• Doi Numarası: 10.4274/jcrpe.0097
• Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
• Sayfa Sayıları: ss.350-356
• Gazi Üniversitesi Adresli: Evet

Özet

Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a novel mutation in the AVPR2 gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal cognitive functions.